Details of Disease | DrugMAP

General Information of Disease (ID: DISNCNZ8)

Disease Name	Metaphyseal anadysplasia 2
Synonyms	MANDP2; metaphyseal anadysplasia caused by mutation in MMP9; MMP9 metaphyseal anadysplasia; metaphyseal anadysplasia 2; metaphyseal anadysplasia type 2
Definition	Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.
Disease Hierarchy	DISQCPVO: Metaphyseal anadysplasia DISNCNZ8: Metaphyseal anadysplasia 2
Disease Identifiers	MONDO ID MONDO_0013113 MESH ID C567771 UMLS CUI C2751322 OMIM ID 613073 MedGen ID 414350

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MMP9	TT6X50U	moderate	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MMP9	DEA0BDX	Limited	Unknown	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MMP9	OTB2QDAV	Limited	Unknown	[1]
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References

1	Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Am J Hum Genet. 2009 Aug;85(2):168-78. doi: 10.1016/j.ajhg.2009.06.014. Epub 2009 Jul 16.